A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects

Multicentric osteolysis with nodulosis and arthropathy (MONA, NAO (OMIM no. 605156)) is an autosomal recessive member of the ‘vanishing bone' syndromes and is notable for the extent of carpal and tarsal osteolysis and interphalangeal joint erosions, facial dysmorphia, and the presence of fibroc...

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Bibliografiset tiedot
Päätekijät: Tuysuz, Beyhan, Mosig, Rebecca, Altun, Gürkan, Sancak, Selim, Glucksman, Marc J, Martignetti, John A
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group 2009
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC2721823/
https://ncbi.nlm.nih.gov/pubmed/18985071
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2008.204
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